Incidental Mutation 'R1591:Kcng1'
ID 175463
Institutional Source Beutler Lab
Gene Symbol Kcng1
Ensembl Gene ENSMUSG00000074575
Gene Name potassium voltage-gated channel, subfamily G, member 1
Synonyms OTTMUSG00000016048
MMRRC Submission 039628-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # R1591 (G1)
Quality Score 164
Status Validated
Chromosome 2
Chromosomal Location 168102037-168123453 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 168110630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 178 (E178G)
Ref Sequence ENSEMBL: ENSMUSP00000104815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099069] [ENSMUST00000109191] [ENSMUST00000131749]
AlphaFold A2BDX4
Predicted Effect possibly damaging
Transcript: ENSMUST00000099069
AA Change: E178G

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000096668
Gene: ENSMUSG00000074575
AA Change: E178G

DomainStartEndE-ValueType
BTB 63 172 4.22e-5 SMART
low complexity region 174 197 N/A INTRINSIC
Pfam:Ion_trans 226 470 8.6e-41 PFAM
Pfam:Ion_trans_2 379 465 7.6e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109191
AA Change: E178G

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104815
Gene: ENSMUSG00000074575
AA Change: E178G

DomainStartEndE-ValueType
BTB 63 172 4.22e-5 SMART
low complexity region 174 197 N/A INTRINSIC
Pfam:Ion_trans 270 459 1.9e-31 PFAM
Pfam:Ion_trans_2 379 465 1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131749
Meta Mutation Damage Score 0.5677 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,957,505 (GRCm39) Q201K probably benign Het
Acacb A T 5: 114,341,484 (GRCm39) I829F possibly damaging Het
Acvr1b G T 15: 101,091,905 (GRCm39) V62L probably benign Het
Adam6b A T 12: 113,453,452 (GRCm39) I90F probably benign Het
Adgrf1 T C 17: 43,621,872 (GRCm39) L703P probably damaging Het
Arf3 T C 15: 98,640,669 (GRCm39) probably benign Het
Asns T C 6: 7,678,007 (GRCm39) D357G probably damaging Het
Atr T C 9: 95,827,438 (GRCm39) M2461T probably damaging Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Bod1l T C 5: 41,976,563 (GRCm39) I1584V probably benign Het
Bub3 T C 7: 131,163,337 (GRCm39) probably null Het
Camkk2 A G 5: 122,895,621 (GRCm39) probably null Het
Cand1 G T 10: 119,047,774 (GRCm39) T572K possibly damaging Het
Caprin2 A T 6: 148,774,606 (GRCm39) S235R possibly damaging Het
Cdh24 T C 14: 54,873,799 (GRCm39) T452A probably benign Het
Cdh4 T C 2: 179,528,657 (GRCm39) probably null Het
Cfap61 A G 2: 145,987,378 (GRCm39) R1060G probably benign Het
Chd9 A G 8: 91,710,166 (GRCm39) D314G probably damaging Het
Cplx3 C T 9: 57,523,085 (GRCm39) V125I probably benign Het
Csmd1 T A 8: 15,950,710 (GRCm39) I3500F probably damaging Het
Dnah1 G T 14: 30,994,289 (GRCm39) Q2858K probably benign Het
Dnah6 C T 6: 73,053,583 (GRCm39) E2884K probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Exosc10 T A 4: 148,652,840 (GRCm39) I485N probably benign Het
Fap T C 2: 62,384,201 (GRCm39) K2E probably damaging Het
Fgfr1 G A 8: 26,062,736 (GRCm39) G671D probably damaging Het
Fzr1 C T 10: 81,206,201 (GRCm39) R162Q possibly damaging Het
Grap2 A T 15: 80,532,649 (GRCm39) Y272F probably damaging Het
Il11ra1 T A 4: 41,766,200 (GRCm39) W246R probably damaging Het
Kcna3 A T 3: 106,944,345 (GRCm39) I203F probably damaging Het
Kif19a A C 11: 114,680,057 (GRCm39) H798P probably benign Het
Kif21b T C 1: 136,077,055 (GRCm39) L359P probably damaging Het
Krt6a A T 15: 101,600,792 (GRCm39) probably null Het
Lrp1 C T 10: 127,441,475 (GRCm39) S216N probably benign Het
Lrp3 A G 7: 34,901,790 (GRCm39) V676A probably benign Het
Lrrc63 T A 14: 75,363,332 (GRCm39) K266N possibly damaging Het
Mccc1 C T 3: 36,044,006 (GRCm39) V246M probably damaging Het
Mdn1 T C 4: 32,700,092 (GRCm39) V1395A possibly damaging Het
Mmrn1 A T 6: 60,921,755 (GRCm39) R71* probably null Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Ogdh T C 11: 6,299,384 (GRCm39) F750S probably damaging Het
Or1ak2 C A 2: 36,827,990 (GRCm39) N286K probably damaging Het
Or51aa2 T G 7: 103,188,274 (GRCm39) T56P probably benign Het
Or5p60 T A 7: 107,723,571 (GRCm39) I300F possibly damaging Het
Or8b3 A G 9: 38,314,232 (GRCm39) T18A probably damaging Het
Or8b42 A T 9: 38,341,707 (GRCm39) N43I probably damaging Het
Osbpl11 A C 16: 33,030,353 (GRCm39) I194L probably benign Het
Pacsin2 T C 15: 83,269,252 (GRCm39) E14G probably damaging Het
Pate7 T C 9: 35,687,952 (GRCm39) D96G probably damaging Het
Pcdh7 A G 5: 57,877,764 (GRCm39) T440A probably damaging Het
Pcdhb17 T C 18: 37,618,878 (GRCm39) S223P probably damaging Het
Pik3c2g G A 6: 139,693,904 (GRCm39) R109K probably benign Het
Ppp2ca T C 11: 51,989,916 (GRCm39) I14T possibly damaging Het
Rdh12 A T 12: 79,258,278 (GRCm39) T102S probably damaging Het
Rsf1 T A 7: 97,288,520 (GRCm39) C132* probably null Het
Rufy1 G A 11: 50,285,755 (GRCm39) L621F probably damaging Het
Ruvbl2 C T 7: 45,074,135 (GRCm39) R253H possibly damaging Het
Sdf2 A G 11: 78,145,819 (GRCm39) E172G probably damaging Het
Skint5 C T 4: 113,856,651 (GRCm39) probably null Het
Slc25a27 A G 17: 43,964,315 (GRCm39) I185T probably benign Het
Slc41a3 A C 6: 90,610,677 (GRCm39) K180Q probably benign Het
Slc7a14 A C 3: 31,291,598 (GRCm39) F227V probably damaging Het
Smg1 T C 7: 117,756,142 (GRCm39) probably benign Het
St6galnac1 A T 11: 116,656,689 (GRCm39) D483E probably damaging Het
Tes A G 6: 17,097,441 (GRCm39) K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 (GRCm39) D290Y probably damaging Het
Tifab T A 13: 56,324,164 (GRCm39) Y93F probably benign Het
Tmem131l A G 3: 83,848,196 (GRCm39) probably null Het
Tnfrsf21 T A 17: 43,396,265 (GRCm39) S516R probably benign Het
Ttn T C 2: 76,606,389 (GRCm39) Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 (GRCm39) S3692T probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Zfp113 T C 5: 138,149,459 (GRCm39) probably benign Het
Zfp26 T C 9: 20,348,921 (GRCm39) T548A probably benign Het
Zfp870 C T 17: 33,102,990 (GRCm39) G114D probably damaging Het
Other mutations in Kcng1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Kcng1 APN 2 168,110,684 (GRCm39) missense probably benign
IGL01316:Kcng1 APN 2 168,110,960 (GRCm39) missense probably damaging 1.00
PIT4378001:Kcng1 UTSW 2 168,104,604 (GRCm39) missense probably damaging 0.98
R0104:Kcng1 UTSW 2 168,110,966 (GRCm39) missense probably damaging 1.00
R0692:Kcng1 UTSW 2 168,104,683 (GRCm39) missense probably damaging 0.99
R1574:Kcng1 UTSW 2 168,110,961 (GRCm39) missense probably damaging 1.00
R1574:Kcng1 UTSW 2 168,110,961 (GRCm39) missense probably damaging 1.00
R1731:Kcng1 UTSW 2 168,110,609 (GRCm39) missense probably benign 0.00
R1937:Kcng1 UTSW 2 168,104,941 (GRCm39) missense probably benign 0.02
R1960:Kcng1 UTSW 2 168,104,904 (GRCm39) missense probably benign 0.03
R2145:Kcng1 UTSW 2 168,110,952 (GRCm39) missense probably damaging 1.00
R4167:Kcng1 UTSW 2 168,104,617 (GRCm39) missense probably damaging 1.00
R5215:Kcng1 UTSW 2 168,105,053 (GRCm39) missense probably benign 0.20
R5816:Kcng1 UTSW 2 168,110,643 (GRCm39) missense possibly damaging 0.90
R6367:Kcng1 UTSW 2 168,104,572 (GRCm39) missense probably damaging 1.00
R7058:Kcng1 UTSW 2 168,104,529 (GRCm39) missense probably damaging 1.00
R7920:Kcng1 UTSW 2 168,104,904 (GRCm39) missense probably benign 0.03
R7984:Kcng1 UTSW 2 168,104,406 (GRCm39) missense possibly damaging 0.93
R8494:Kcng1 UTSW 2 168,105,018 (GRCm39) missense probably damaging 1.00
R8994:Kcng1 UTSW 2 168,110,768 (GRCm39) missense probably benign 0.10
R9111:Kcng1 UTSW 2 168,104,535 (GRCm39) missense probably damaging 1.00
R9178:Kcng1 UTSW 2 168,111,105 (GRCm39) missense possibly damaging 0.93
R9507:Kcng1 UTSW 2 168,111,152 (GRCm39) missense probably damaging 0.96
R9562:Kcng1 UTSW 2 168,104,797 (GRCm39) missense probably damaging 1.00
X0063:Kcng1 UTSW 2 168,110,993 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTTCAGAGCTGCTGACGGTCTTAC -3'
(R):5'- ACGAGTTCTTCTTCGACCGCAACC -3'

Sequencing Primer
(F):5'- TGCTGACAGACAGGTTGACG -3'
(R):5'- AACCCCGGAGCTTTTGGC -3'
Posted On 2014-04-24